Varaico: Literature-Extracted Genetic Variants

Gene:GABRA1
Variant:p.S326fs
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GABRA1

NM_001127644.2:p.S326fs

Associated Papers

A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro.

Steudle F et al.

Scientific Reports, 2020

De novo GABRA1 mutations in Ohtahara and West syndromes.

Kodera H et al.

Epilepsia, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."